Research & Literature

Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.

Benkert AR, Young M, Robinson D, et al.

The Journal of clinical endocrinology and metabolism 2015; (100(8)):E1105-15 doi:10.1210/jc.2015-2098.

Human 3β-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature.

Burckhardt MA, Udhane SS, Marti N, et al.

European journal of endocrinology 2015; (173(5)):K1-K12 doi:10.1530/EJE-15-0599.

Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life.

Odenwald B, Nennstiel-Ratzel U, Dörr HG, et al.

European journal of endocrinology 2016; (174(2)):177-86 doi:10.1530/EJE-15-0775.

Hypoglycemia due to 3β-Hydroxysteroid Dehydrogenase type II Deficiency in a Newborn.

Konar MC, Goswami S, Babu BG, Mallick AK

Indian pediatrics 2015; (52(11)):981-3 doi:10.1007/s13312-015-0758-z.

Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline.

Bornstein SR, Allolio B, Arlt W, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(2)):364-89 doi:10.1210/jc.2015-1710.

A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family.

Bizzarri C, Massimi A, Federici L, et al.

Hormone research in paediatrics 2016; (86(1)):53-61 doi:10.1159/000444712.

Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?

Mouriquand PD, Gorduza DB, Gay CL, et al.

Journal of pediatric urology 2016; (12(3)):139-49.

Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene.

Güven A, Polat S

Journal of clinical research in pediatric endocrinology 2017; (9(1)):85-90 doi:10.4274/jcrpe.3306.

Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation.

Probst-Scheidegger U, Udhane SS, l'Allemand D, et al.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2016; (10(4)):200-204 doi:10.1159/000448724.

Current models of care for disorders of sex development - results from an International survey of specialist centres.

Kyriakou A, Dessens A, Bryce J, et al.

Orphanet journal of rare diseases 2016; (11(1)):155 doi:10.1186/s13023-016-0534-8.

Genetics of Congenital Adrenal Hyperplasia.

Hannah-Shmouni F, Chen W, Merke DP

Endocrinology and metabolism clinics of North America 2017; (46(2)):435-458 doi:10.1016/j.ecl.2017.01.008.

Parental management of adrenal crisis in children with congenital adrenal hyperplasia.

Fleming L, Knafl K, Knafl G, Van Riper M

Journal for specialists in pediatric nursing : JSPN 2017; (22(4)) doi:10.1111/jspn.12190.

Development of monoclonal antibodies against the human 3β-hydroxysteroid dehydrogenase/isomerase isozymes.

Gomez-Sanchez CE, Lewis M, Nanba K, et al.

Steroids 2017; (127()):56-61 doi:10.1016/j.steroids.2017.08.011.

Sodium Chloride Supplementation Is Not Routinely Performed in the Majority of German and Austrian Infants with Classic Salt-Wasting Congenital Adrenal Hyperplasia and Has No Effect on Linear Growth and Hydrocortisone or Fludrocortisone Dose.

Bonfig W, Roehl F, Riedl S, et al.

Hormone research in paediatrics 2018; (89(1)):7-12 doi:10.1159/000481775.

Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit.

Donadille B, Houang M, Netchine I, et al.

Endocrine connections 2018; (7(3)):395-402 doi:10.1530/EC-17-0306.

Congenital adrenal hyperplasia: clinical symptoms and diagnostic methods.

Podgórski R, Aebisher D, Stompor M, et al.

Acta biochimica Polonica 2018; (65(1)):25-33 doi:10.18388/abp.2017_2343.

Longitudinal Assessment of Illnesses, Stress Dosing, and Illness Sequelae in Patients With Congenital Adrenal Hyperplasia.

El-Maouche D, Hargreaves CJ, Sinaii N, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(6)):2336-2345 doi:10.1210/jc.2018-00208.

Extensive Bilateral Adrenal Rest Testicular Tumors in a Patient With 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency.

Lolis E, Juhlin CC, Nordenström A, Falhammar H

Journal of the Endocrine Society 2018; (2(6)):513-517 doi:10.1210/js.2018-00082.

Mutation of HSD3B2 Gene and Fate of Dehydroepiandrosterone.

Baquedano MS, Guercio G, Costanzo M, et al.

Vitamins and hormones 2018; (108()):75-123 doi:10.1016/bs.vh.2018.05.002.

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.

Speiser PW, Arlt W, Auchus RJ, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(11)):4043-4088 doi:10.1210/jc.2018-01865.

A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity

Shehab MA, Mahmood T, Hasanat MA, et al.

Endocrinology, diabetes & metabolism case reports 2018; (2018(1)):18-0108.

Ethical issues with early genitoplasty in children with disorders of sex development.

Harris RM, Chan YM

Current opinion in endocrinology, diabetes, and obesity 2019; (26(1)):49-53 doi:10.1097/MED.0000000000000460.

Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.

Al Alawi AM, Nordenström A, Falhammar H

Endocrine 2019; (63(3)):407-421 doi:10.1007/s12020-018-01835-3.

Emergency management of adrenal insufficiency in children: advocating for treatment options in outpatient and field settings.

Miller BS, Spencer SP, Geffner ME, et al.

Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2020; (68(1)):16-25 doi:10.1136/jim-2019-000999.

Utilization of a shared decision-making tool in a female infant with congenital adrenal hyperplasia and genital ambiguity.

Chawla R, Weidler EM, Hernandez J, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(6)):643-646 doi:10.1515/jpem-2018-0567.

Human placental 3β-hydroxysteroid dehydrogenase/steroid Δ5,4-isomerase 1: Identity, regulation and environmental inhibitors.

Zhu Q, Pan P, Chen X, et al.

Toxicology 2019; (425()):152253 doi:10.1016/j.tox.2019.152253.

Congenital Adrenal Hyperplasia: Time to Replace 17OHP with 21-Deoxycortisol.

Miller WL

Hormone research in paediatrics 2019; (91(6)):416-420 doi:10.1159/000501396.

Plasma Renin Measurements are Unrelated to Mineralocorticoid Replacement Dose in Patients With Primary Adrenal Insufficiency.

Pofi R, Prete A, Thornton-Jones V, et al.

The Journal of clinical endocrinology and metabolism 2020; (105(1)) doi:10.1210/clinem/dgz055.

Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases.

Guran T, Kara C, Yildiz M, et al.

The Journal of clinical endocrinology and metabolism 2020; (105(3)) doi:10.1210/clinem/dgaa022.

Vomiting and Cardiac Arrest in a 10-Year-Old Girl.

Zorko DJ, Samaan MC, Gupta R

Pediatric emergency care 2021; (37(12)):e1747-e1749 doi:10.1097/PEC.0000000000001957.

Guidelines for the management of glucocorticoids during the peri-operative period for patients with adrenal insufficiency: Guidelines from the Association of Anaesthetists, the Royal College of Physicians and the Society for Endocrinology UK.

Woodcock T, Barker P, Daniel S, et al.

Anaesthesia 2020; (75(5)):654-663 doi:10.1111/anae.14963.

Management of Infants with Congenital Adrenal Hyperplasia.

Dabas A, Vats P, Sharma R, et al.

Indian pediatrics 2020; (57(2)):159-164.

Post-operative complications following feminizing genitoplasty in moderate to severe genital atypia: Results from a multicenter, observational prospective cohort study.

Baskin A, Wisniewski AB, Aston CE, et al.

Journal of pediatric urology 2020; (16(5)):568-575 doi:10.1016/j.jpurol.2020.05.166.

Effects of androgen excess and glucocorticoid exposure on bone health in adult patients with 21-hydroxylase deficiency.

Auer MK, Paizoni L, Hofbauer LC, et al.

The Journal of steroid biochemistry and molecular biology 2020; (204()):105734 doi:10.1016/j.jsbmb.2020.105734.

Illness Uncertainty Longitudinally Predicts Distress Among Caregivers of Children Born With DSD.

Roberts CM, Sharkey CM, Bakula DM, et al.

Journal of pediatric psychology 2020; (45(9)):1053-1062 doi:10.1093/jpepsy/jsaa069.

Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene.

Fanis P, Neocleous V, Kosta K, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2021; (34(1)):131-136 doi:10.1515/jpem-2020-0245.

MANAGEMENT OF ENDOCRINE DISEASE: Gonadal dysfunction in congenital adrenal hyperplasia.

Claahsen-van der Grinten HL, Stikkelbroeck N, Falhammar H, Reisch N

European journal of endocrinology 2021; (184(3)):R85-R97.

Three cases of 3β-hydroxysteroid dehydrogenase deficiency: Clinical analysis.

Chen L, Huang H, Zhang H, et al.

Advances in clinical and experimental medicine : official organ Wroclaw Medical University 2021; (30(3)):289-299 doi:10.17219/acem/131220.

Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registry.

Hoyer-Kuhn H, Huebner A, Richter-Unruh A, et al.

Endocrine connections 2021; (10(5)):561-569.

Case of an unreported genetic variant of salt losing 3-β-hydroxysteroid dehydrogenase deficiency.

Alkhatib EH, Adams SD, Miller ER

Oxford medical case reports 2021; (2021(5)):omab021 doi:10.1093/omcr/omab021.

Adrenal crisis and mortality rate in adrenal insufficiency and congenital adrenal hyperplasia.

Lousada LM, Mendonca BB, Bachega TASS

Archives of endocrinology and metabolism 2021; (65(4)):488-494.

Testicular adrenal rest tumors in children with congenital adrenal hyperplasia.

Al-Ghamdi WM, Shazly MA, Al-Agha AE

Saudi medical journal 2021; (42(9)):986-993 doi:10.15537/smj.2021.42.9.20210257.

Case Report:clinical experience of bilateral giant pediatric Testicular adrenal rest tumors with 3 Beta-Hydroxysteroid Dehydrogenase-2 family history.

Yu L, Chen P, Zhu W, et al.

BMC pediatrics 2021; (21(1)):405 doi:10.1186/s12887-021-02883-x.

Disorders of Sex Development of Adrenal Origin.

Finkielstain GP, Vieites A, Bergadá I, Rey RA

Frontiers in endocrinology 2021; (12()):770782 doi:10.3389/fendo.2021.770782.

Treatment of congenital adrenal hyperplasia in children aged 0-3 years: a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure.

Neumann U, van der Linde A, Krone RE, et al.

European journal of endocrinology 2022; (186(5)):587-596 doi:10.1530/EJE-21-1085.

Management of Acute Adrenal Insufficiency-Related Adverse Events in Children with Congenital Adrenal Hyperplasia: Results of an International Survey of Specialist Centres.

Ali SR, Bryce J, Krone NP, et al.

Hormone research in paediatrics 2022; (95(4)):363-373 doi:10.1159/000525075.

Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria.

Ladjouze A, Donaldson M, Plotton I, et al.

Frontiers in endocrinology 2022; (13()):867073 doi:10.3389/fendo.2022.867073.

Long-Term Results of Surgical Treatment and Patient-Reported Outcomes in Congenital Adrenal Hyperplasia-A Multicenter European Registry Study.

Krege S, Falhammar H, Lax H, et al.

Journal of clinical medicine 2022; (11(15)) doi:10.3390/jcm11154629.

Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency.

Nicola AG, Carsote M, Gheorghe AM, et al.

Diagnostics (Basel, Switzerland) 2022; (12(9)) doi:10.3390/diagnostics12092168.

Monitoring treatment in pediatric patients with 21-hydroxylase deficiency.

Itonaga T, Hasegawa Y

Frontiers in endocrinology 2023; (14()):1102741 doi:10.3389/fendo.2023.1102741.

How parents of children with ataxia-telangiectasia use dynamic coping to navigate cyclical uncertainty.

Schiller J, Towne MC, Epstein R, et al.

Journal of genetic counseling 2024; (33(2)):301-313 doi:10.1002/jgc4.1727.

Adrenal insufficiency management in the pediatric emergency setting and risk factors for adrenal crisis development.

Abrigo E, Munarin J, Bondone C, et al.

Italian journal of pediatrics 2023; (49(1)):63 doi:10.1186/s13052-023-01475-y.

Working towards convergence of the clinical management of differences of sex development/intersex conditions and the human rights framework: A case study.

Cools M, Verhagen E, Hoebeke P, et al.

Clinical endocrinology 2024; (101(5)):499-506 doi:10.1111/cen.15002.

Rare forms of congenital adrenal hyperplasia.

Gurpinar Tosun B, Guran T

Clinical endocrinology 2024; (101(4)):371-385 doi:10.1111/cen.15009.

Practice Variation among Pediatric Endocrinologists in the Dosing of Glucocorticoids in Young Children with Congenital Adrenal Hyperplasia.

Al-Rayess H, Lahoti A, Simpson LL, et al.

Children (Basel, Switzerland) 2023; (10(12)) doi:10.3390/children10121871.

Congenital Adrenal Hyperplasia.

Fraga NR, Minaeian N, Kim MS

Pediatrics in review 2024; (45(2)):74-84 doi:10.1542/pir.2022-005617.

Evaluation of 3β-hydroxysteroid dehydrogenase activity using progesterone and androgen receptors-mediated transactivation.

Yazawa T, Watanabe Y, Yokohama Y, et al.

Frontiers in endocrinology 2024; (15()):1480722 doi:10.3389/fendo.2024.1480722.

Treatment and Follow-up of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Childhood and Adolescence

Peltek Kendirci HN, Ünal E, Dündar İ, et al.

Journal of clinical research in pediatric endocrinology 2025; (17(Suppl 1)):12-22 doi:10.4274/jcrpe.galenos.2024.2024-6-26-S.

Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency

İsakoca M, Erdeve Ş, Çetinkaya S

Journal of clinical research in pediatric endocrinology 2025; (17(Suppl 1)):23-32 doi:10.4274/jcrpe.galenos.2024.2024-6-21-S.

Clinical Manifestations and Challenges in Adolescent and Adult Females With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Engberg H, Nordenström A, Hirschberg AL

The Journal of clinical endocrinology and metabolism 2025; (110(Supplement_1)):S37-S45 doi:10.1210/clinem/dgae696.

Longitudinal Characterization and Sonographic Staging of Testicular Adrenal Rest Tumors.

Vaid S, Kulkarni S, Marko J, et al.

The Journal of clinical endocrinology and metabolism 2026; (111(3)):698-706 doi:10.1210/clinem/dgaf498.

Diagnostic and therapeutic pitfalls in the management of pediatric patients with 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD2) deficiency - a single center experience.

Gawlik Z, Preizner-Rzucidło E, Kaleta K, et al.

Frontiers in endocrinology 2025; (16()):1642051 doi:10.3389/fendo.2025.1642051.

Positive neonatal screening test for congenital adrenal hyperplasia in a case with 3β-hydroxysteroid dehydrogenase type 2 deficiency.

Anik M, Erdogan D, Baris T, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2026; (39(2)):193-198 doi:10.1515/jpem-2025-0403.

Caring for Girls With Salt-Wasting Congenital Adrenal Hyperplasia: A Qualitative Study From Central Java, Indonesia.

Sari JI, Pramudani AH, Ediati A, Utari A

Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2026; (40(3)):e38-e47 doi:10.1016/j.pedhc.2025.09.024.

3β-Hydroxysteroid dehydrogenase type-2 deficiency: Our experience and gonadal function-focused systematic review.

Daga A, Phadte A, Karlekar M, et al.

Endocrine 2026; (91(1)).

Glucocorticoid reduction after starting crinecerfont in pediatric patients with classic congenital adrenal hyperplasia: practical perspectives.

Nokoff NJ, Fechner PY, Kim MS, et al.

The Journal of clinical endocrinology and metabolism 2026; (111(8)):e1937-e1950 doi:10.1210/clinem/dgag192.

Impact of the Empower-DSD training program on the health-related quality of life in children, adolescents and young adults with differences of sex development and their parents.

Neumann U, Schilling R, Wiegmann S, et al.

Frontiers in pediatrics 2026; (14()):1719768 doi:10.3389/fped.2026.1719768.