Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

hrp0098p3-227 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

A de novo novel heterozygous deletion mutation in steroidogenic factor 1 gene (NR5A1) in a 46,XY female with sex reversal, primary adrenal insufficiency and splenic aplasia: A 13 years follow-up

hrp0098p3-228 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

The clinical conundrum of mixed gonadal dysgenesis: A case report

hrp0098p3-229 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Complete Androgen Insensitivity Syndrome Coexisting with Müllerian Duct Remnants: A Case Report and Literature Review

hrp0098p3-230 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Does Primary Ovarian Failure associate with Monogenic Diabetes Mellitus

hrp0098p3-231 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

A case of isolated transient clitoral hypertrophy in extremely preterm infant with popliteal pterygium

hrp0098p3-232 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

When phenotype and genotype do not match: Risks to be analyzed.

hrp0098p3-233 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Spontaneous Puberty in a Boy with Desert Hedgehog (DHH) Mutations with Hypospadia and Cryptorchidism after Stimulation with GNRHa and HCG/FSH during Infancy

hrp0098p3-234 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Clinical case of rare association of Treacher Collins syndrome with micropenis and unilateral cryptorchidism in Russian patient

hrp0098p3-235 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Comparative Analysis of Clinical Presentation and Hormonal Profiles in Egyptian Pediatric Patients with 11-Beta-Hydroxylase and 21-Hydroxylase Deficient Congenital Adrenal Hyperplasia

hrp0098p3-236 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Comparative Analysis of Growth and Hormonal Parameters in Pediatric Patients with 11-Beta-Hydroxylase Deficiency (11OHD) vs. 21-Hydroxylase Deficiency (21OHD)

hrp0098p3-237 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Case report: A unusual association: Lipoid CAH and Arnold Chiari I malformation!

hrp0098p3-238 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

New mutation in the ANOS gene associated with hypogonadotropic hypogonadism, anosmia, synkinesis and renal agenesis.

hrp0098p3-239 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

The influence of the 21-CYP mutation on the development of premature adrenarche in girls of Uzbek nationality

hrp0098p3-240 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Delayed puberty: etiological and gender characteristics

hrp0098p3-241 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

The curious case of a boy with cryptorchidism

hrp0098p3-242 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Efficacy of Letrozole in Managing Prepubertal Gynecomastia Associated with Peutz-Jeghers Syndrome: A Case Study

hrp0098p3-243 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Aphallia: a case report

hrp0098p3-244 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

A rare cause of Secondary Amenorrhoea: Sertoli-Leydig cell tumour of ovary associated with DICER-1

hrp0098p3-245 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

A rare case of Swyer syndrome from Kazakhstan: XY Complete Gonadal Dysgenesis in a young girl with primary amenorrhea

hrp0098p3-246 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

ESPE Abstracts

62nd Annual ESPE (ESPE 2024)

Poster Category 3

A de novo novel heterozygous deletion mutation in steroidogenic factor 1 gene (NR5A1) in a 46,XY female with sex reversal, primary adrenal insufficiency and splenic aplasia: A 13 years follow-up

The clinical conundrum of mixed gonadal dysgenesis: A case report

Complete Androgen Insensitivity Syndrome Coexisting with Müllerian Duct Remnants: A Case Report and Literature Review

Does Primary Ovarian Failure associate with Monogenic Diabetes Mellitus

A case of isolated transient clitoral hypertrophy in extremely preterm infant with popliteal pterygium

When phenotype and genotype do not match: Risks to be analyzed.

Spontaneous Puberty in a Boy with Desert Hedgehog (DHH) Mutations with Hypospadia and Cryptorchidism after Stimulation with GNRHa and HCG/FSH during Infancy

Clinical case of rare association of Treacher Collins syndrome with micropenis and unilateral cryptorchidism in Russian patient

Comparative Analysis of Clinical Presentation and Hormonal Profiles in Egyptian Pediatric Patients with 11-Beta-Hydroxylase and 21-Hydroxylase Deficient Congenital Adrenal Hyperplasia

Comparative Analysis of Growth and Hormonal Parameters in Pediatric Patients with 11-Beta-Hydroxylase Deficiency (11OHD) vs. 21-Hydroxylase Deficiency (21OHD)

Case report: A unusual association: Lipoid CAH and Arnold Chiari I malformation!

New mutation in the ANOS gene associated with hypogonadotropic hypogonadism, anosmia, synkinesis and renal agenesis.

The influence of the 21-CYP mutation on the development of premature adrenarche in girls of Uzbek nationality

Delayed puberty: etiological and gender characteristics

The curious case of a boy with cryptorchidism

Efficacy of Letrozole in Managing Prepubertal Gynecomastia Associated with Peutz-Jeghers Syndrome: A Case Study

Aphallia: a case report

A rare cause of Secondary Amenorrhoea: Sertoli-Leydig cell tumour of ovary associated with DICER-1

A rare case of Swyer syndrome from Kazakhstan: XY Complete Gonadal Dysgenesis in a young girl with primary amenorrhea

Central Precocious Puberty in a 4-year-old Male: “A Case Report of Hypothalamic Hamartoma-Induced Early Puberty”

BiosciAbstracts