Postnatal Hypoglycemia Research Articles

Factors associated with neonatal hyperinsulinemic hypoglycemia, a case-control study.

We aimed to identify perinatal risk factors associated with hyperinsulinemic hypoglycemia in neonates. Secondary objectives included an examination of clinical and biochemical characteristics at the time of diagnosis and an exploration of the duration of diazoxide therapy. A case-control study was conducted, involving individual chart reviews of inborn infants diagnosed with hyperinsulinemic hypoglycemia (the HH group) between 2014 and 2021. These cases were paired with controls (the non-HH group) belonging to the same gestational age (GA) strata who did not exhibit HH or only had transient postnatal hypoglycemia. A total of 52 infants with HH were matched with corresponding controls. The mean GA in the HH group was 34.4±3.1weeks. Notably, the HH group exhibited lower mean minimum plasma glucose (PG) levels and required higher glucose infusion rates in comparison to the non-HH group (26.5±15.6 vs. 49.1±37.7 mg/dL and 12.9±3.8 vs. 5.7±2.1 mg/kg/min, respectively; p<0.001 for both). After adjusting for potential confounding factors, only two variables, fetal growth restriction (FGR) and neonatal sepsis, demonstrated significant associations with HH (adjusted odds ratio [95 % confidence interval]: 8.1 [2.1-31.0], p=0.002 and 6.3 [1.9-21.4], p=0.003, respectively). The median duration of diazoxide therapy for the HH group was 4months. FGR and neonatal sepsis emerged as notable risk factors for HH. These infants exhibited lower PG levels and necessitated higher glucose infusion rates compared to their non-HH counterparts. Importantly, a substantial proportion of the HH group received diazoxide therapy, with a median treatment duration of 4months.

Neonatal hyperinsulinism with an ABCC8 mutation: A case report

Neonatal hyperinsulinism can result from perinatal stress, genetic disorders, or syndromes, which can lead to persistent or intractable hypoglycemia in newborns. Mutations in the ABCC8 gene result in abnormal functioning of potassium channel proteins in pancreatic β-cells, leading to an overproduction of insulin and congenital hyperinsulinemia. We report a case of a high-birth-weight infant with postnatal hypoglycemia and hyperinsulinemia, whose mother had pregestational diabetes mellitus with poor glycemic control and whose sister had a similar history at birth. Whole-exome sequencing revealed a new mutation in the ABCC8 gene in exon 8 (c.1257T>G), which also occurred in his sister and mother; thus, the patient was diagnosed with neonatal hyperinsulinism with an ABCC8 mutation. With oral diazoxide treatment, the child's blood glucose returned to normal, and the pediatrician gradually discontinued treatment because of the child's good growth and development. We report a new mutation locus in the ABCC8 gene. This mutation locus warrants attention for genetic disorders and long-term prognoses of hypoglycemic children.

Association between newborn hypoglycemia screening and breastfeeding success in an Ottawa, Ontario, hospital: a retrospective cohort study.

There has been limited investigation of the unintended effects of routine screening for asymptomatic hypoglycemia in at-risk newborns. This study aimed to explore whether rates of exclusive breastfeeding were lower in screened babies than in unscreened babies. This retrospective cohort study conducted in Ottawa, Canada, used data from Hôpital Montfort's electronic health information system. Healthy singleton newborns discharged between Feb. 1, 2014, and June 30, 2018, were included. We excluded babies and mothers with conditions expected to interfere with breastfeeding (e.g., twins). We investigated the association between postnatal screening for hypoglycemia and initial exclusive breastfeeding (in the first 24 hours of life). We included 10 965 newborns; of these, 1952 (17.8%) were fully screened for hypoglycemia. Of screened newborns, 30.6% exclusively breastfed and 64.6% took both formula and breastmilk in the first 24 hours of life. Of unscreened newborns, 45.4% exclusively breastfed and 49.8% received both formula and breastmilk. The adjusted odds ratio for exclusive breastfeeding in the first 24 hours of life among newborns screened for hypoglycemia was 0.57 (95% confidence interval 0.51-0.64). The association of routine newborn hypoglycemia screening with a lower initial rate of exclusive breastfeeding suggests a potential effect of screening on early breastfeeding success. Confirmation of these findings might warrant a re-evaluation of the net benefit of asymptomatic postnatal hypoglycemia screening for different newborn populations at risk of hypoglycemia.

Evaluation of a low postnatal hypoglycaemia threshold

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

The relationship between postnatal hypoglycemia and umbilical artery Doppler ultrasonography in neonates with intrauterine growth restriction: A longitudinal follow-up study

BackgroundIntrauterine growth restriction (IUGR) refers to fetuses with an estimated ultrasonography weight below the 10% percentile. Hypoglycemia is a major concern in neonates with IUGR.ObjectiveTo investigate the relationship between umbilical artery (UA) Doppler ultrasonography and neonate hypoglycemia and IUGR.Materials and MethodsThis was a longitudinal follow-up study consisting of 114 neonates (gestational age of 28-40 wk) born with IUGR in the third trimester of pregnancy at Shahid Sadoughi Hospital, Yazd, Iran between May 2016 and October 2017. The neonates were assigned into three subgroups of normal UA Doppler, absent end-diastolic flow (EDF) in UA Doppler, and reverse EDF in UA Doppler. The blood glucose of the neonates was checked one, two, three, six, 12, 24 and 48 hr after birth, and the neonates were placed in the hypoglycemia or euglycemia groups according to guidelines.ResultsOut of the 114 neonates included in the study, 75 (65.8%) had normal UA Doppler, 29 (25.4%) had absent EDF in UA Doppler, and 10 (8.8%) had reverse EDF in UA Doppler. There was a significant difference in the mean blood glucose in the first hr between the normal UA Doppler group and the reverse EDF in UA Doppler group (p 0.01).ConclusionPostnatal hypoglycemia in neonates with IUGR is associated with the result of UA Doppler ultrasonography during pregnancy.

Scoping review of evidence for managing postnatal hypoglycaemia

ObjectivesTo identify what is known empirically about the screening, treatment and harm of exposure to neonatal hypoglycaemia.DesignScoping review that applied a preregistered protocol based on established frameworks.Data sourcesMedline and Embase,...

Postnatal hypoglycemia and blood glucose concentrations in neonatal tropical goat kids.

This study aimed to evaluate the influences of breed, sex, litter size, and birth weight on the incidence of postnatal hypoglycemia and blood glucose concentrations in neonatal tropical goats. A total of 160 neonatal goat kids belonging to Red Sokoto (n=98), Sahel (n=40), and West African Dwarf (n=22) breeds, were categorized after birth based on glycemic status, sex, litter size, and birth weights (high or low). Blood samples were collected on postnatal days 0, 1, 2, 3, 10, and 20 to determine blood glucose concentrations. Results revealed that the incidence of hypoglycemia at birth among neonatal goat kids was 22.5% (36/160) and was significantly (P<0.05) higher in the Sahel breed kids, twin kids, and kids born with low birth weights. After 24hours, all hypoglycemic kids became normoglycemic but maintained lower (P<0.05) blood glucose levels than those that were normoglycemic at birth, until day 10, when both groups had comparable blood glucose levels. In all groups, blood glucose concentrations increased significantly 24hours postnatal, and kids with high birth weights had significantly higher values than those with low birth weights, while the buck kids had higher values than the doelings. There was a negative correlation (r=-0.31; P<0.0003) between the blood glucose concentration of dams and those of their kids. In conclusion, the incidence of hypoglycemia in tropical goat kids was markedly influenced by breed, birth weight, and litter size. Furthermore, the hypoglycemic kids maintained lower blood glucose concentrations until day 10 postnatal, suggesting the need for relevant nutritional provisions for hypoglycemic kids during this critical period.

Body composition in term offspring after maternal gestational diabetes does not predict postnatal hypoglycemia

BackgroundOffspring of mothers with gestational diabetes mellitus (GDM) have an increased risk of neonatal complications like birth trauma due to macrosomia or postnatal hypoglycemia, as well as long-term metabolic sequelae. Neonatal body composition may be a sensitive marker of metabolic effects on the fetus caused by suboptimal glycemic control during pregnancy.ObjectiveTo determine body composition in offspring of mothers with GDM compared to a reference cohort of healthy term neonates and to assess whether increased body fat would be associated with postnatal hypoglycemia.MethodsThis prospective, observational, cross-sectional study included 311 full-term, singleton infants born between June 2014 and July 2015. Body composition was measured within 96 h of birth using air displacement plethysmography. Results are indicated as median (1st Quartile – 3rd Quartile).ResultsOf 311 infants, 40 (12.9%) were born to mothers with GDM. Birth weight standard deviation scores (SDS) (0.24 vs. − 0.07, p = 0.04), fat mass (370 g vs. 333 g, p = 0.02) as well as fat mass/total body mass (BF%; 11.4% vs. 10.8%, p = 0.03) were significantly higher in infants following maternal GDM than in controls. In GDM offspring, anthropometric parameters, fat mass or BF% did not differ between infants with or without postnatal hypoglycemia. In this cohort, SDS for birth weight, fat mass, fat free mass, BF% or postnatal hypoglycemia were not associated with maternal blood glucose levels measured at an oral glucose tolerance test.ConclusionsSDS for birth weight, neonatal fat mass, and BF% were significantly higher in newborns following maternal GDM. In these infants born to mothers with GDM, body composition did not differ between those with or without postnatal hypoglycemia.

Early Exchange Transfusion to Treat Neonates With Gestational Alloimmune Liver Disease

Exchange transfusion (ET) and intravenous immunoglobulin are potentially life-saving treatment options in newborns with gestational alloimmune liver disease (GALD). Since 2008, early ET has been the standard of care for symptomatic neonates with suspected GALD in our unit. The present study's aim was to investigate the outcomes of this approach. From 2008 to 2018, all neonates who received ET for suspected GALD were identified, and their clinical course and outcomes were analyzed in a descriptive cohort study. In survivors, liver function parameters before ET and maximum values after ET and at discharge were compared. During the 11-year period, 12 infants received ET for suspected GALD at a median (range) chronological age of 11 (1-23) days and gestational age of 38 (32-40) weeks. Signs of impaired liver function, most frequently postnatal hypoglycemia, hyperferritinemia, direct hyperbilirubinemia, and coagulopathy, were present in all infants. Survival without a liver transplant in the overall cohort was 10 of 12 (83.3%) and 7 of 9 (78%) in those fulfilling the criteria of acute liver failure. Two patients died, one of them after liver transplantation. Direct bilirubin typically increased after ET, even in survivors. All survivors recovered and were discharged from the pediatric hepatology outpatient clinic after 8 (3-11) months of follow-up. In newborns with suspected GALD, a limited diagnostic work-up followed by early ET may lead to favorable outcomes. More data are required to develop an evidence-based clinical approach to GALD.

Maternal obesity and degree of glucose intolerance on neonatal hypoglycaemia and birth weight: a retrospective observational cohort study in women with gestational diabetes mellitus.

Gestational diabetes mellitus (GDM) is an increasing problem worldwide. Postnatal hypoglycaemia and excess foetal growth are known important metabolic complications of neonates born to women with diabetes. This retrospective cohort study aims to determine the influence of obesity and glucose intolerance on neonatal hypoglycaemia and birth weight over the 90th percentile (LGA). Data were abstracted from 303 patient medical records from singleton pregnancies diagnosed with GDM. Data were recorded during routine hospital visits. Demographic data were acquired by facilitated questionnaires and anthropometrics measured at the first antenatal appointment. Blood biochemical indices were recorded. Plasma glucose area under the curve (PG-AUC) was calculated from OGTT results as an index of glucose intolerance. OGTT results of 303 pregnant women aged between 33.6years (29.8-37.7) diagnosed with GDM were described. Neonates of mothers with a BMI of over 30kg/m2 were more likely to experience neonatal hypoglycaemia (24 (9.2%) vs. 23 (8.8%), p = 0.016) with odds ratio for neonatal hypoglycaemia significantly higher at 2.105, 95% CI (1.108, 4.00), p = 0.023. ROC analysis showed poor strength of association (0.587 (95% CI, .487 to .687). Neonatal LGA was neither associated with or predicted by PG-AUC nor obesity; however, multiparous women were 2.8 (95% CI (1.14, 6.78), p = 0.024) times more likely to have a baby born LGA.Conclusion: Maternal obesity but not degree of glucose intolerance increased occurrence of neonatal hypoglycaemia. Multiparous women had greater risk of neonates born LGA.What is Known:•Excess foetal growth in utero has long-term metabolic implications which track into adulthood.•Neonatal hypoglycaemia is detrimental to newborns in the acute phase with potential long-term implications on the central nervous system.What is New:•Maternal obesity but not degree of glucose intolerance in a GDM cohort increased occurrence of neonatal hypoglycaemia.•Multiparous women diagnosed had greater risk of neonates born LGA.

Swedish national guideline for prevention and treatment of neonatal hypoglycaemia in newborn infants with gestational age ≥35weeks.

Postnatal hypoglycaemia in newborn infants remains an important clinical problem where prolonged periods of hypoglycaemia are associated with poor neurodevelopmental outcome. The aim was to develop an evidence-based national guideline with the purpose to optimise prevention, diagnosis and treatment of hypoglycaemia in newborn infants with a gestational age ≥35+0weeks. A PubMed search-based literature review was used to find actual and applicable evidence for all incorporated recommendations. The GRADE (Grading of Recommendations, Assessment, Development and Evaluation) approach was used for grading the evidence of the recommendations. Recommendations for the prevention of neonatal hypoglycaemia were extended and updated, focusing on promotion of breastfeeding as one prevention strategy. Oral dextrose gel as a novel supplemental therapy was incorporated in the treatment protocol. A new threshold-based screening and treatment protocol presented as a flow chart was developed. An updated and evidence-based national guideline for screening and treatment of neonatal hypoglycaemia will support standardised regimes, which may prevent hypoglycaemia and the risk for hypoglycaemia-related long-term sequelae.

Continuous glucose monitoring as a screening tool for neonatal hypoglycemia in infants of diabetic mothers

Objective: To assess the plausibility of using the continuous glucose monitoring as a sole source of data for the screening of the neonatal hypoglycemia.Study design: Infants of mothers with diabetes were screened for neonatal hypoglycemia (less than 2.5 mmol/l after 4 h of life). Initial measurement was performed using point of care analyzer. We applied continuous glucose monitoring system subsequently. Infants were monitored up to 5 days or until discharge.Results: Out of 32 infants 11 had postnatal hypoglycemia resolved within 12 h of life. Two infants had hypoglycemia found due to continuous glucose monitoring after 24 h of life when sufficient feeding was established and they did not show any signs of hypoglycemia. We did not have any false negative measurements. No infant showed clinical signs of neonatal hypoglycemia.Conclusions: Continuous glucose monitoring is plausible and safe to use for screening of neonatal hypoglycemia. It operates well within the range that is accepted as safe for neurodevelopment. In addition, it can be used after first day of life where regular screening ends. Limitation of this method is possible alarm negligence of caregivers.

The Morphological Changes of Uterus in Postnatal Development of Heifers

The Morphological Changes of Uterus in Postnatal Development of Heifers

Continuous subcutaneous glucose monitoring is accurate in term and near-term infants at risk of hypoglycaemia.

Postnatal hypoglycaemia increases the risk of adverse neurological outcomes in newborn infants, and adequate glucose control requires repetitive and painful blood sampling. This study evaluated a continuous glucose monitoring system (CGMS) that aims to improve glucose control and decrease the frequency of blood samples taken from neonates. CGMS sensors, which measure glucose values every five minutes and require calibration twice a day, were placed on 20 infants at risk of hypoglycaemia. The infants also underwent blood glucose sampling, and the blood glucose values were compared with CGMS values six times during the first 30 minutes after sampling. We used 97/264 (37%) of the blood glucose values taken for the CGMS calibration. The highest accuracy, a mean of 0.22 (95% confidence interval 0.13-0.30 mmol/L), was found 15-19 minutes after sampling, due to the calibration process. No significant subcutaneous glucose time lag was detectable. The CGMS system was an accurate and feasible method for glucose control, provided earlier detection of hypoglycaemia in newborn infants and reduced their exposure to procedural pain. The delay in calibration in infants was a new finding and needs to be taken into account when comparing CGMS readings to blood glucose values.

Insulin and glucagon levels of umbilical cord blood in appropriate for gestational age - preterm infants with or without postnatal hypoglycemia.

PurposeTo determine whether serum insulin and glucagon levels of umbilical cord blood correlate with subsequent postnatal hypoglycemia in appropriate for gestational age (AGA) – preterm infants at different gestational ages (GAs).MethodsThe serum insulin and glucagon levels of umbilical cord blood were measured using magnetic bead based multiplex immunoassay in 69 AGA - premature infants, stratified according to GA: GA 23–30 weeks, early preterm (EP, n=31); GA 31–34 weeks, late preterm (LP, n=38). Postnatal hypoglycemia was defined as a capillary glucose level <40 mg/dL within the first 60 minutes of life, regardless of GA.ResultsThe capillary glucose concentration in EP infants (65.5±21.2 mg/dL) was significantly higher than that of LP infants (55.9±17.3 mg/dL) (P=0.043). The serum glucagon level in EP infants (44.3±28.7 pg/mL) was significantly higher than that in LP infants (28.1±13.6 pg/mL) (P=0.006). There was not a significant difference in serum insulin level between EP and LP infants (372.7±254.2 pg/mL vs. 372.4±209.1 pg/mL, P=0.996). There was a significant difference in the serum glucagon level between infants with and without hypoglycemia (27.7±8.9 mg/dL vs. 36.8±24.6 mg/dL, P=0.036), but not in the serum insulin level (451.9±256.9 pg/mL vs. 357.4±222.2 pg/mL, P=0.211). Postnatal glucose concentration within the first 60 minutes of life had a significant positive correlation with serum glucagon levels (r=0.256, P=0.034), but not with serum insulin levels (r=–0.020, P=0.867).ConclusionLower glucagon levels of cord blood were seen in premature infants with higher GA, which might contribute to the occurrence of postnatal hypoglycemia.

Time for large randomised trials of vitamin D for women with gestational diabetes mellitus to improve perinatal health outcomes.

Gestational diabetes mellitus (GDM) affects 7-14% of pregnancies in the USA and its incidence is rising. Several small trials have demonstrated improved insulin sensitivity and glucose tolerance with vitamin D supplementation among women with GDM. In this issue of Diabetologia (DOI: 10.1007/s00125-014-3293-x ), Asemi and colleagues report that co-supplementation of vitamin D and calcium among women with diet-controlled GDM improves several biomarkers of metabolic status, including insulin, glucose and cholesterol. Whether such improvements in biomarkers would translate into clinically meaningful reductions in the harmful sequelae of GDM remains unknown. The promising results from Asemi and colleagues justify investment in large randomised, double-blind, placebo-controlled trials of vitamin D (with or without calcium) for women with GDM. Such trials should be powered for perinatal outcomes such as Caesarean section for macrosomia, postnatal hypoglycaemia and respiratory distress; ideally, the trials would include long-term follow-up of mothers and infants for later metabolic consequences of GDM.

Do neonatal hypoglycaemia guidelines in Australia and New Zealand facilitate breast feeding?

Objectiveto establish how well postnatal ward neonatal hypoglycaemia guidelines facilitate breast feeding and adhere to UNICEF UK Baby Friendly Initiative (BFI) recommendations, and to compare compliance with different recommendations. Designan appraisal of guidelines obtained via email survey using a UNICEF UK BFI checklist tool. Information about Baby Friendly Health/Hospital Initiative (BFHI) accreditation status was obtained by email questionnaire. Settingtertiary neonatal centres in Australia and New Zealand. Participants22 guidelines were returned from 23 centres eligible to participate. Findingsguidelines generally scored poorly. On a scale ranging from 31 to 124 of overall guideline quality, the median score was 71. On a scale of 9 to 36 for adherence to recommendations to facilitate breast feeding, the median guideline score was 20. Compliance with the recommendation to promote skin-to-skin contact and early breast feeding was poor across all centres, achieving a score of 59 out of 88. Nine of 22 guidelines mentioned skin-to-skin contact after birth and 14 advised feeding within one hour of birth. The recommendation about discussing artificial milk supplementation with parents received a score of 44 out of 88. Fourteen guidelines listed Large for Gestational Age (LGA) infants to be at risk of hypoglycaemia. Few guidelines included up-to-date references or flowcharts. Key conclusionsguidelines need to recommend early skin-to-skin contact and discussion with parents before artificial milk supplementation. Guidelines suggest LGA neonates are being screened unnecessarily. Implications for practiceguidelines need constant revision as evidence for best practice expands. The UNICEF UK BFI checklist provides a readily available quality improvement tool.

Gestational diabetes in Turkmenistan: implementation of a screening program and first results

Data on the prevalence of gestational diabetes (GDM) is not available for Turkmenistan or any other central Asian country with large energy resources and rapidly increasing wealth and rates of obesity. We initiated a screening program to determine the prevalence of and the risk factors for GDM in Turkmenistan. Between March 2008 and March 2011, all pregnant women presenting to the Ene-Maehri-Merkezi perinatal center in Ashgabat before week 34 of pregnancy received a glucose screening test (after 26 weeks of pregnancy; 50 g glucose). If 60-min glucose was ≥7.8 mmol/l, an oral glucose tolerance test (oGTT) (75gr) was performed. GDM was diagnosed if ≥1 glucose values were abnormal (≥5.0, ≥10.0, ≥8.0 mmol/l at 0-, 60-, 120-min, respectively). Birth weight, 30 min glucose, and APGAR (1, 5, and 10 min) were recorded for all newborns. Of 1,738 women, 22.7 % had a pathological screening test. 70 % of these, underwent an oGTT and of these, 39.5 % had GDM (overall prevalence 6.3 %). Age, BMI, parity, and blood pressure were associated with screening glucose (all p < 0.001). In a multivariate analysis, age, BMI, and family history for diabetes were associated with GDM. Newborns from affected mothers were heavier (3,622 ± 435 vs. 3,480 ± 464 g, p = 0.007) and developed postnatal hypoglycaemia more often (21.6 vs. 9.3 %, p = 0.001), while there was no difference in APGAR. GDM is a relevant problem in Turkmenistan and probably also in other central Asian countries. The prevalence is similar to other developing countries such as India or China. Risk factors are comparable to those determined in other parts of the world.

Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib

Maternal deletion of the NESP55 differentially methylated region (DMR) (delNESP55/ASdel3-4(m), delNAS(m)) from the GNAS locus in humans causes autosomal dominant pseudohypoparathyroidism type Ib (AD-PHP-Ib(delNASm)), a disorder of proximal tubular parathyroid hormone (PTH) resistance associated with loss of maternal GNAS methylation imprints. Mice carrying a similar, maternally inherited deletion of the Nesp55 DMR (ΔNesp55(m)) replicate these Gnas epigenetic abnormalities and show evidence for PTH resistance, yet these mice demonstrate 100% mortality during the early postnatal period. We investigated whether the loss of extralarge αs (XLαs) imprinting and the resultant biallelic expression of XLαs are responsible for the early postnatal lethality in ΔNesp55(m) mice. First, we found that ΔNesp55(m) mice are hypoglycemic and have reduced stomach-to-body weight ratio. We then generated mice having the same epigenetic abnormalities as the ΔNesp55(m) mice but with normalized XLαs expression due to the paternal disruption of the exon giving rise to this Gnas product. These mice (ΔNesp55(m)/Gnasxl(m+/p-)) showed nearly 100% survival up to postnatal day 10, and a substantial number of them lived to adulthood. The hypoglycemia and reduced stomach-to-body weight ratio observed in 2-d-old ΔNesp55(m) mice were rescued in the ΔNesp55(m)/Gnasxl(m+/p-) mice. Surviving double-mutant animals had significantly reduced Gαs mRNA levels and showed hypocalcemia, hyperphosphatemia, and elevated PTH levels, thus providing a viable model of human AD-PHP-Ib. Our findings show that the hypoglycemia and early postnatal lethality caused by the maternal deletion of the Nesp55 DMR result from biallelic XLαs expression. The double-mutant mice will help elucidate the pathophysiological mechanisms underlying AD-PHP-Ib.

Alu Sx repeat-induced homozygous deletion of the StAR gene causes lipoid congenital adrenal hyperplasia

Lipoid congenital adrenal hyperplasia (Lipoid CAH) is the most severe form of the autosomal recessive disorder CAH. A general loss of the steroid biosynthetic activity caused by defects in the StAR gene manifests as life-threatening primary adrenal insufficiency. We report a case of Lipoid CAH caused by a so far not described homozygous deletion of the complete StAR gene and provide diagnostic results based on a GC–MS steroid metabolomics and molecular genetic analysis. The patient presented with postnatal hypoglycemia, vomiting, adynamia, increasing pigmentation and hyponatremia. The constellation of urinary steroid metabolites suggested Lipoid CAH and ruled out all other forms of CAH or defects of aldosterone biosynthesis. After treatment with sodium supplementation, hydrocortisone and fludrocortisone the child fully recovered. Molecular genetic analysis demonstrated a homozygous 12.1kb deletion in the StAR gene locus. The breakpoints of the deletion are embedded into two typical genomic repetitive Alu Sx elements upstream and downstream of the gene leading to the loss of all exons and regulatory elements. We established deletion-specific and intact allele-specific PCR methods and determined the StAR gene status of all available family members over three generations. This analysis revealed that one of the siblings, who died a few weeks after birth, carried the same genetic defect. Since several Alu repeats at the StAR gene locus increase the probability of deletions, patients with typical symptoms of lipoid CAH lacking evidence for the presence of both StAR alleles should be analyzed carefully for this kind of disorder.